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Merck

Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.

Biomedical mass spectrometry (1978-03-01)
L Sweetman, W Weyler, W L Nyhan, C de Cรฉspedes, A R Loria, Y Estrada
PMID630060
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A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an inherited deficiency of propionyl-CoA carboxylase. These included the isoleucine metabolites 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. These isomers 3-hydroxyvaleric acid and 3-oxovaleric acid were found, which may be products of the condensation of propionyl-CoA with acetyl-CoA catalyzed by 3-oxoacyl-CoA thiolases. Following a load of isoleucine, 2-methylbutyrylglycine was identified. This metabolite has not previously been observed in man.

MATERIALS
Product Number
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Sigma-Aldrich
Methyl acetoacetate, Arxada quality, ≥99% (GC)
Sigma-Aldrich
Methyl acetoacetate, ReagentPlusยฎ, โ‰ฅ98.5% (GC)
Supelco
N-(2-Methylbutyryl)glycine, analytical standard